Inigo Martincorena

Persistence of tobacco-mutated alveolar progenitor cells after smoking cessation mirrors long term risk of lung adenocarcinoma

The paper shows that persistent mutation burdens in alveolar progenitor cells after smoking cessation explain the continued risk of lung adenocarcinoma compared to squamous cell carcinoma.

Using somatic data to aid germline clinical variant interpretation in developmental disorders

This paper uses somatic mutation data to improve the classification of germline variants in developmental disorders by identifying genes where somatic and germline mechanisms are concordant.

Mutational signatures associated with tobacco smoking in human cancer

The paper identifies multiple mutational signatures linked to tobacco smoking in cancer, reflecting both direct and indirect effects of tobacco smoke on DNA damage and mutation processes.

Personally tailored cancer management based on knowledge banks of genomic and clinical data

The paper develops a prognostic algorithm for AML using genomic and clinical data, showing improved prediction accuracy over current methods.

GOTHiC, a simple probabilistic model to resolve complex biases and to identify real interactions in Hi-C data

GOTHiC introduces a simple probabilistic model to correct biases and identify significant interactions in Hi-C data, outperforming existing methods.